Merosin DeficientCongenital Muscular

Dystrophy

Cause and Diagnosis

Autosomal Recessive

CMD

Magnetic Resonance Imaging(MRI)

Muscle Biopsy

Merosin Deficient

CMD

Flaws in the Brain

Lack of All or SomeMuscle Protein, Merosin

Merosin + Merosin - Somewhat Merosin -

MDA’s “Quest Magazine

A Website Titled “Congenital Weakness”

Children are at risk for cognitive difficulties

Mentality is normal

Merosin may not be the best way to determine if there are cognitive disabilities

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Seizures and MRI scans can determine this

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White Matter Abnormalitiesin the Brain

– visible in MRIs - no affect on brain functioning

Seizures

Have Seizures

20%

Don’t Have Seizures

80%

Effects on the Muscular System

Muscle Weakness

• Merosin levels are somewhat low; children walk by 2 or 3

• Merosin is completely deficient; children never walk

• General muscle weakness

• Poor head control

• Decreased tone in skeletal muscles

• Delayed motor milestones

• Contractures

Chewing and Swallowing• This is difficult due to

general muscle weakness, according to pediatric R.N. Wendy Yandle.– A G-tube is a port

implanted into the stomach to give supplemental nutrition.

Breathing

• Breathing very shallow, especially at night; a ventilator is often used

Treatments Available(from a site called “Congenital

Muscular Dystrophy”• Physical Therapy (PT)

– Regular stretching to maintain range of motion and prevent/delay contractures

– Frequent exercise is important to maintain health• Strenuous exercise damages muscles

• Occupational Therapy (OT)– “Occupational therapy involves using

methods and tools to compensate for the loss of strength and mobility…”

Scoliosis Surgery

Other Surgeries

• Relieving of tendon tension to eliminate or lesson contractures

• Insertion of a G-tube for supplemental feedings.

The End